Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E2K
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LMNA

NM_170707.4:p.E2K

Associated Papers

Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.

Zhou X et al.

Biogerontology, 2025

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.

Wilke MVMB et al.

Genes, 2024

Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.

Shilo A et al.

Nucleic Acids Research, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."